NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr) AND Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Clinical significance:Pathogenic (Last evaluated: Mar 11, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157765.5

Allele description

NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr)

Gene:
HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr)
HGVS:
  • NC_000010.11:g.122506874G>A
  • NG_011554.1:g.50350G>A
  • NM_002775.4:c.961G>A
  • NP_002766.1:p.Ala321Thr
  • NC_000010.10:g.124266390G>A
  • NP_002766.1:p.[Glu42fs];[Ala321Thr]
Protein change:
A321T; ALA321THR
Links:
OMIM: 602194.0007; dbSNP: rs587776449
NCBI 1000 Genomes Browser:
rs587776449
Molecular consequence:
  • NM_002775.4:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Identifiers:
MedGen: C1838577; Orphanet: 199354; OMIM: 600142
Age of onset:
Adolescent

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207696OMIMno assertion criteria providedPathogenic
(Mar 11, 2014)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two novel HTRA1 mutations in a European CARASIL patient.

Bianchi S, Di Palma C, Gallus GN, Taglia I, Poggiani A, Rosini F, Rufa A, Muresanu DF, Cerase A, Dotti MT, Federico A.

Neurology. 2014 Mar 11;82(10):898-900. doi: 10.1212/WNL.0000000000000202. Epub 2014 Feb 5. No abstract available.

PubMed [citation]
PMID:
24500651

Details of each submission

From OMIM, SCV000207696.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 29-year-old Romanian woman with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL; 600142), Bianchi et al. (2014) identified compound heterozygous mutations in the HTRA1 gene: a c.961G-A transition in exon 4, resulting in an ala321-to-thr (A321T) substitution at a highly conserved residue in the serine protease domain, and a 1-bp deletion (c.126delG; 602194.0007) in exon 1, resulting in a frameshift (Glu42fs) and premature termination at position 214. The missense mutation was inherited from the father and the truncating mutation from the mother. The mutations, which were found by direct sequencing of the HTRA1 gene, were not present in the dbSNP (build 137) or 1000 Genomes Project databases, or in 320 control chromosomes. The father showed mild supratentorial leukoencephalopathy and the mother showed diffuse infra- and supratentorial leukoencephalopathy, but both parents were neurologically normal, suggesting that the carrier condition may be paucisymptomatic. Functional studies of the variants were not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2016